Awkward Questions from the Geneticist

“Let me ask you an odd question. Is there any chance your parents are blood relatives?”

Last week, I visited the Dean McGee Eye Institute again, this time to meet with a geneticist. I don’t claim to know anything about genetic testing or genetics in general (other than the fact that teachers would always get upset with me when we filled out those charts in school showing dominant and recessive genes and mine had one brown eye and one green eye…), but here’s what I understand.

There’s currently no treatment for Stargardt’s Disease, but by doing genetic testing now, I gain three things. First, if the test works, I may discover which gene of mine is mutated. If they ever have a clinical trial for Stargardt’s patients, I would have to know which of my genes are mutated. Right now they know of fifteen different genes related to Stargardt’s, so it could be any of them. Because the test takes months to perform, by getting it done now, I would at least be ahead of the pack. Second, because my variation of Stargardt’s Disease (only affecting one eye… for now!) is apparently very rare, my genetic mutations would be added to the national database for other testers to compare against.

And, third, it gives me something geeky to blog about.

One concern the doctor had was that because my eyes are different colors, I have two different genetic codes. By taking a blood sample for testing, it’s possible that they could only get one kind of code (the good eye) or the other kind (the bad one). Hopefully, both kinds will show up on the test.

So, after a brief session with the geneticist in which I was asked lots of questions (including the one above about the potential that my parents were blood relatives) I was sent over to OU Children’s Hospital to have blood taken. Apparently some gene research can be done with a cheek swab, but this one requires blood. It can also be done “with a biopsy sample from the affected area,” which sounds like fun to no one involved.

The geneticist has to fill out an application by hand and manually request a test for me. Once the sample is mailed off it will take months to get any information back, so if this topic bores you to death, good news!

I have read that some people have to pay as much as $5,000 out of pocket for this test and the doctor said multiple tests have run people $10k. Our insurance only requires a $100 payment.

Now all there is to do is wait for the results and see! (That’s a vision joke.)

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5 comments to Awkward Questions from the Geneticist

  • Paul in AZ

    Rob – You are taking this very well. What they find from your case may help others down the road, so it’s a noble thing. I was also going to point out that your onset age of this condition also seems to be an outlier, so you may get gene #16 – The O’Hara Gene Mutation. Anyway, I still hope they can come up with something to forestall the likely outcome. Wishing you the best.

  • Doctor: “I can see you still use a Commodore 64 routinely — we’ll need to send you over to the Children’s Hospital for the test…”

    Ha! Is this how it went?

    Seriously, though. I hope everything goes as smoothly as it can. I’m rooting for you!

  • Eric

    I just wanted to chime in and agree with Paul that you seem to be handling this crappy situation very well. Keep up the positive attitude, Rob! My father has been going through some serious health issues of late, and I always find it inspirational when I see others with health issues approach their situations with positivity. I hope things work out well for you! No one knows what the future holds, so why get overly worked up worrying about the future when things are alright in the present moment, right?

  • Matt Kimber

    Best of luck with this, Rob. It can’t be easy, but you seem to have a positive outlook on it, despite the challenges. Keep your head up!